Micrognathia, and High, narrow palate

Diseases related with Micrognathia and High, narrow palate

In the following list you will find some of the most common rare diseases related to Micrognathia and High, narrow palate that can help you solving undiagnosed cases.

Top matches:

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

High match LEGIUS SYNDROME

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Other less relevant matches:

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

Top 5 symptoms//phenotypes associated to Micrognathia and High, narrow palate

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and High, narrow palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Flexion contracture Short philtrum Failure to thrive Dyspnea Short stature Hearing impairment Short neck Dolichocephaly Feeding difficulties Cleft palate Scoliosis Seizures Mandibular prognathia Telecanthus Wide nasal bridge Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Underdeveloped nasal alae Hypoglycemia Highly arched eyebrow Dry skin Low-set ears Nystagmus Abnormality of the dentition Thin vermilion border Strabismus Intellectual disability, severe Wide mouth Hypospadias Muscular hypotonia Tented upper lip vermilion Small for gestational age Microdontia Dental malocclusion Hypertrichosis Mitral regurgitation Mitral valve prolapse Low anterior hairline Cutis laxa Long face Joint laxity Arachnodactyly Tricuspid valve prolapse Upslanted palpebral fissure Neonatal respiratory distress Delayed eruption of teeth Hirsutism Tented philtrum Intellectual disability, moderate Retrognathia Respiratory distress Decreased testicular size Narrow face Short palpebral fissure Generalized hypotonia Neoplasm Depressed nasal ridge Epicanthus Macrocephaly Hyperactivity Increased susceptibility to fractures Low-set, posteriorly rotated ears Lipodystrophy Triangular face Depressed nasal bridge Malar flattening Clinodactyly Microcephaly Ptosis Blepharophimosis Specific learning disability Long toe Enlarged thorax Spastic tetraparesis Abnormal echocardiogram Hypoxemia Recurrent pneumonia Iridodonesis Gingival overgrowth Postnatal growth retardation Ascending tubular aorta aneurysm Severe global developmental delay Abnormal cardiac ventricle morphology Abnormality of the skeletal system Abnormality of eye movement Talipes calcaneovarus Crumpled ear Frontal bossing Open mouth Increased arm span Intellectual disability, profound Brachydactyly Febrile seizures Thin skin Absence of subcutaneous fat Megalocornea Motor delay Congenital generalized lipodystrophy Prominent nasal tip Narrow naris Narrow nasal ridge Loss of facial adipose tissue Dimple chin Upper airway obstruction Abnormally large globe Premature skin wrinkling Progeroid facial appearance Narrow nasal tip Self-mutilation Shallow orbits Abnormality of the forehead Hyporeflexia Aortic root aneurysm Narrow nasal bridge Mask-like facies Opisthotonus Generalized lipodystrophy Long fingers Emphysema Tricuspid regurgitation Heart murmur Deeply set eye Ectopia lentis Adducted thumb Blue sclerae High myopia Joint hypermobility Pectus carinatum Lipoatrophy Short clavicles Kyphosis Sepsis Clitoral hypertrophy Precocious puberty Hyperinsulinemia Acanthosis nigricans Preauricular skin tag Insulin resistance Epidermal acanthosis Abdominal distention Absent eyebrow Microcornea Smooth philtrum Coarse facial features Respiratory failure Brachycephaly Optic atrophy Myopia Abnormal facility in opposing the shoulders Hyperglycemia Flat occiput Persistent open anterior fontanelle Thin eyebrow Abnormality of upper lip Postprandial hyperglycemia Muscle flaccidity Chorioretinal dystrophy Diabetic ketoacidosis Abnormal lip morphology Choroideremia Advanced eruption of teeth Ovarian neoplasm Long penis Fasting hypoglycemia Thick nail Abnormality of the optic nerve Long foot Ketoacidosis Insulin-resistant diabetes mellitus Protuberant abdomen Long second metacarpal Wide pubic symphysis Midface retrusion Short ribs Proptosis Increased number of teeth Thickened calvaria Short femoral neck Cone-shaped epiphysis Coxa vara Wormian bones Increased bone mineral density Cone-shaped epiphyses of the phalanges of the hand Large fontanelles Hypoplasia of dental enamel Recurrent otitis media Otitis media Genu valgum Narrow chest Pes planus Skeletal dysplasia Syringomyelia Abnormality of the clavicle Delayed pubic bone ossification Absent frontal sinuses Absent paranasal sinuses Short middle phalanx of the 2nd finger Large foramen magnum Spondylolysis Moderately short stature Hypoplastic frontal sinuses Parietal bossing Delayed eruption of primary teeth Hypoplastic scapulae Parietal foramina Delayed eruption of permanent teeth Cervical ribs Aplastic clavicle Short middle phalanx of the 5th finger Spondylolisthesis Osteolytic defects of the phalanges of the hand Hypoplastic iliac wing Polyhydramnios Delayed speech and language development Hypertonia Broad eyebrow Long philtrum Congestive heart failure Atrial septal defect Cardiomyopathy Pain Submucous cleft soft palate Neonatal hypoglycemia Posteriorly rotated ears Oral-pharyngeal dysphagia Spinal muscular atrophy Dysphonia Sacral dimple Narrow forehead Broad nasal tip Thick eyebrow Pectus excavatum Thin upper lip vermilion Feeding difficulties in infancy Atrial fibrillation Thromboembolism Striae distensae Abnormal heart valve morphology Disproportionate tall stature Aortic regurgitation Dental crowding Abnormality of the cardiovascular system Hypertrophic cardiomyopathy Limb undergrowth Convex nasal ridge Chest pain Small hand Tachycardia Pulmonic stenosis Broad forehead Poor speech Neonatal hypotonia Endocarditis Interphalangeal joint contracture of finger Ulnar deviation of the hand or of fingers of the hand Lacrimal duct atresia Ulnar deviation of the hand Abnormality of the wrist Ulnar deviation of finger Congenital sensorineural hearing impairment Bilateral sensorineural hearing impairment Aplasia/Hypoplasia involving the nose Hypoplasia of the maxilla Wide nose Flat face Camptodactyly of finger Narrow mouth Short nose Sensorineural hearing impairment Ulnar deviation of the wrist Limited wrist movement Babinski sign Neoplasm of the lung Depressivity Dysphagia Skeletal muscle atrophy Muscle weakness Axillary freckling Lisch nodules Multiple cafe-au-lait spots Attention deficit hyperactivity disorder Freckling Abnormality of the sternum Multiple lipomas Neurofibromas Cafe-au-lait spot Low posterior hairline Abnormality of skin pigmentation Supraventricular tachycardia Asthenia Respiratory insufficiency Prominent forehead Polymicrogyria Dysmetria Hypermetropia Abnormality of the cerebral white matter Gait ataxia Hyperkeratosis Cerebellar hypoplasia Wide intermamillary distance Obesity Intellectual disability, mild Hypoplasia of the corpus callosum Abnormality of male external genitalia Ablepharon Frontal hirsutism Mild hearing impairment Thick vermilion border Hypsarrhythmia Generalized hypertrichosis Talipes calcaneovalgus Hyperreflexia Spasticity Abnormality of the cerebral cortex Aplasia/Hypoplasia of the ribs Phimosis Periventricular gray matter heterotopia Colpocephaly Heterotopia Broad philtrum Prominent metopic ridge Hallux valgus Abnormality of neuronal migration Infantile muscular hypotonia Plagiocephaly Gynecomastia Abnormality of female external genitalia Broad alveolar ridges Mastoiditis Microtia Sparse and thin eyebrow Abnormality of the face Abnormality of the genital system Abnormality of the skin Ectodermal dysplasia Bulbous nose Abnormality of the pinna Hyperextensible skin Conductive hearing impairment Rigidity Anteverted nares Talipes equinovarus Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Generalized hirsutism Dermal atrophy Breast aplasia Shawl scrotum Sparse or absent eyelashes Gingival fibromatosis Absent nipple Skin tags Taurodontia Inverted nipples Hypoplastic nipples Atresia of the external auditory canal Aplasia/Hypoplasia of the skin Long nose Aplasia/Hypoplasia of the eyebrow Cupped ear Ectropion Sparse eyebrow Redundant skin Onychauxis


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